Canonical Allele Identifier: CA413920187

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608886G>C (hg19) ; chrX:g.101353898G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353898G>C , CM000685.2:g.101353898G>C	GRCh38
NC_000023.10:g.100608886G>C , CM000685.1:g.100608886G>C	GRCh37
NC_000023.9:g.100495542G>C	NCBI36
NG_009616.1:g.37327C>G , LRG_128:g.37327C>G
NG_011734.1:g.72C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3239C>G
ENST00000488970.2:n.3878C>G
ENST00000695614.1:c.1722C>G	ENSP00000512053.1:p.Phe574Leu
ENST00000695615.1:c.1722C>G	ENSP00000512054.1:p.Phe574Leu
ENST00000695616.1:c.*1567C>G	ENSP00000512055.1:n.*1567C>G
ENST00000695617.1:c.1719C>G	ENSP00000512056.1:p.Phe573Leu
ENST00000695618.1:c.*1471C>G	ENSP00000512058.1:n.*1471C>G
ENST00000695619.1:c.*1432C>G	ENSP00000512059.1:n.*1432C>G
ENST00000695620.1:c.*1648C>G	ENSP00000512060.1:n.*1648C>G
ENST00000695621.1:c.*147C>G	ENSP00000512061.1:n.*147C>G
ENST00000695622.1:c.1659C>G	ENSP00000512062.1:p.Phe553Leu
ENST00000695623.1:c.1716C>G	ENSP00000512063.1:p.Phe572Leu
ENST00000695624.1:n.1027C>G
ENST00000695625.1:c.1722C>G	ENSP00000512064.1:p.Phe574Leu
ENST00000695626.1:c.477C>G	ENSP00000512065.1:n.477C>G
ENST00000695627.1:c.670C>G	ENSP00000512066.1:n.670C>G
ENST00000695628.1:c.281C>G	ENSP00000512067.1:n.281C>G
ENST00000695629.1:c.191-547C>G	ENSP00000512068.1:n.191-547C>G
ENST00000695630.1:c.449C>G
ENST00000695631.1:c.115-650C>G
ENST00000695632.1:n.522C>G
ENST00000703407.1:c.1194C>G	ENSP00000512057.1:p.Phe398Leu
ENST00000308731.8:c.1722C>G MANE Select	ENSP00000308176.8:p.Phe574Leu
ENST00000308731.7:c.1722C>G	ENSP00000308176.7:p.Phe574Leu
ENST00000372880.5:c.1194C>G	ENSP00000361971.1:p.Phe398Leu
ENST00000470069.1:n.87C>G
ENST00000488970.1:n.324C>G
ENST00000618050.4:c.1721C>G	ENSP00000479125.1:n.1721C>G
ENST00000621635.4:c.1824C>G	ENSP00000483570.1:p.Phe608Leu
NM_000061.2:c.1722C>G , LRG_128t1:c.1722C>G	NP_000052.1:p.Phe574Leu
NM_001287344.1:c.1824C>G	NP_001274273.1:p.Phe608Leu
NM_001287345.1:c.1194C>G	NP_001274274.1:p.Phe398Leu
NM_000061.3:c.1722C>G MANE Select	NP_000052.1:p.Phe574Leu
NM_001287344.2:c.1824C>G	NP_001274273.1:p.Phe608Leu
NM_001287345.2:c.1194C>G	NP_001274274.1:p.Phe398Leu